ClinVar Miner

List of variants studied for Leber plus disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs) rs778575439
NM_024120.5(NDUFAF5):c.290G>A (p.Gly97Asp) rs1555830705
m.10197G>A rs267606891
m.11696G>A rs200873900
m.14459G>A rs199476105
m.14596A>T rs387906424
m.3697G>A rs199476122

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